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檢驗項目
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2023/6/19 9:12:49
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臺中榮民總醫院的精準醫學中心自主研發次世代定序基因檢測，其中包括家族性高膽固醇血症基因檢測、急性骨髓性白血病基因檢測等專業項目。這些檢驗可以幫助您更全面地了解自己的身體狀況，並評估現有或潛在的疾病風險，進而實現個人化的精準醫療和健康檢查。 基因是影響疾病、身體特徵和健康的重要因素，因此通過檢測自己的基因，可以更準確地治療和預防疾病。為此，我們的精準醫學門診每周二下午1點半到5點半開診，需要提前預約掛號。由專業醫師陳彥如協助您進行基因諮詢，並幫助您更好地了解自己的基因資訊；相關採檢資訊可參考此網頁。 如果您關注自己的身體健康和基因情況，歡迎預約我們的精準醫學門診，我們將竭誠為您提供最優質的服務。
次世代定序臨床檢驗品項部分，目前有以下檢驗品項：
| 基因檢測 | 基因 | ||
| 1 | 家族性高膽固醇血症（Familial Hypercholesterolemia，FH） | LDLR, APOB, PCSK9 | |
| 2 | 急性骨髓性白血病（Acute Myeloid Leukemia，AML） | FLT2, CEBPA, NPM1, IDH1, IDH2, TP53, ASXL1, DNMT1, RUNX1 | |
| 3 | 癌症熱點基因套組定序 (Actionable solid Tumor panel) | BRAF, EGFR (ERBB1), KIT (CD117), KRAS, NRAS, PDGFRA, AKT1, ALK, CTNNB1, ERBB3, ESR1 (ERα), FOXL2, GNA11, GNAQ, IDH1, IDH2, MET, RAF1, RET | |
| 4 | 失智症基因檢測 ((Dementia gene test) | APOE, APP, C9orf72, CSF1R, DNMT1, EIF4G1, GBA, GRN, MAPT, PRNP, PSEN1, PSEN2, SNCA, SNCB, TREM2, TYROBP | |
| 5 | 多項遺傳性癌症基因檢測((Breast cancer 1) | DNA gene list: AIP, ALK, APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CHEK2, CTNNA1, DICER1, DIS3L2, EGFR, EPCAM, FH, FLCN, GATA2, GPC3, GREM1, HOXB13, HRAS, KIT, MAX, MEN1, MET, MITF, MLH1, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PHOX2B, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL4, RET, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TERC, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WRN, WT1 RNA gene list: AIP, APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDKN1B, CDKN1C, CHEK2, CTNNA1, DICER1, DIS3L2, FH, FLCN, GATA2, MAX, MEN1, MLH1, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RB1, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, WRN |
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| 6 | 次世代定序疾病基因突變檢測 (Whole exome Sequence) | 腎上腺腦白質失養症(Adrenoleukodystrophy, ALD) | ABCD1 |
| 肌萎縮側索硬化症(Amyotrophic Lateral Sclerosis) | SOD, TARDBP, VAPB | ||
| 性聯遺傳的平腦症(Aristaless Related homeobox / XLAG Syndrome) | ARX | ||
| 心律失常性右心室心肌病變(Arrhythmogenic right ventricular cardiomyopathy,ARVC) | DSP, JUP, TMEM43, PKP2, DSC2 DSG2 TGFB3 LMNA TTN, RYR2 DSG3 MIB3 | ||
| 自體發炎性疾病(Autoinflammatory disease) | ACP5, ADA, ADA2, ADAM17, ADAR, AICDA, AIRE, ANKZF1, AP3B1, ARPC1B, ASAH1, BACH2, BLOC1S6, BTK, C17ORF62, CARD14, CARD8, CASP10, CASP8, CCBE1, CD27, CD3G, CD40, CD40LG, COPA, CR2, CTLA4, CYBA, CYBB, DCLRE1C, DDX58, DEF6, DKC1, DNASE1L3, DNASE2, DOCK8, DSG1, DUOX2, ELANE, FADD, FAS, FASLG, FCHO1, FOXP3, G6PC3, ICOS, IFIH1, IL10, IL10RA, IL10RB, IL1RN, IL21, IL21R, IL2RA, IL2RB, IL2RG, IL36RN, IRF2BP2, ITCH, ITGAM, ITGB2, ITK, JAK1, LIG4, LPIN2, LRBA, LYN, LYST, MAGT1, MEFV, MVK, NCF2, NCF4, NFAT5, NFKB1, NFKB2, NFKBIA, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, OAS1, ORAI1, OTULIN, PEPD, PIK3CD, PIK3R1, PLCG2, PNP, POLA1, POMP, PRF1, PRKCD, PSMA3, PSMB4, PSMB8, PSMG2, PSTPIP1, RAB27A, RAC2, RAG1, RAG2, RASGRP1, RBCK1, RFX5, RFXANK, RFXAP, RIPK1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF31, RTEL1, SAMHD1, SCO2, SH2D1A, SH3BP2, SI, SIAE, SKIV2L, SLC29A3, SLC37A4, SLC7A7, STAT1, STAT3, STAT4, STAT5B, STIM1, STX11, STXBP2, TBX1, TGFB1, TGFBR1, TGFBR2, TMEM173, TNFAIP3, TNFRSF11A, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF6B, TNFSF12, TOP2B, TPP2, TREX1, TRNT1, TTC37, TTC7A, UNC13D, UNG, WAS, XIAP, ZAP70, ZNF341 | ||
| 體染色體顯性多囊性腎臟病(Autosomal dominant Polycystic Kidney Disease, ADPKD) | PKD1, PKD2 | ||
| Brugada syndrome | ABCC9, CACNA1C, CACNA2D1, CACNB2, GPD1L, HCN4, HEY2, KCND3, KCNE1L, KCNE3, KCNH2, KCNJ8, PKP2, RANGRF, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A, SLMAP, TRPM4 | ||
| Cardio panel | ABCC9, ACTA2, ACTC1, ACTN2, ACVR2B, ACVRL1, AKAP9, ANK2, ANKRD1, ARHGAP31. ATM, B3GAT3, BAG3, BCOR. BMPR2, BRAF, CACNA1C, CACNB2, CALM1, CALM2 ,CASQ2 CAV3, CBL, CFAP53,CFC1, CHD7, CITED2, CLDN16, CLDN19, CNNM2, COL1A1, COL1A2, COL3A1,COL4A1, COL4A2, COL5A1, COL5A2, CREBBP, CRELD1, CRYAB, CSRP3, CTNNA3, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, DTNA, EFEMP2, EGF, EHMT 1, ELN, EMD, ENG, EP300, EVC, EVC2, EYA4, FBN1, FBN2, FHL1, FKTN,FLNA. FLNC, FOXC1, FOXF1, FOXH1, FXYD2, GAA, GATA4. GATA5, GATA6, GDF1, GDF2, GJA1, GJA5. GLA, GPC3, GPD1L, HCCS, HCN4, HFE, HRAS, HTRA1, JAG1, JPH2, JUP, KCNA1, KCNAS, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNK3, KCNQ1, KDM6A, KMT2D, KRAS, LAMA4, LAMP2, LDB3, LMNA, LZTR1, MAP2K2, MED12. MED 13L, MEIS2, MFAP5, MIB 1. MMP21. MMP3, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, MYLK2, MYO6, MYOZ2, MYPN, NEXN, NF 1. NIPBL, NKX2-5, NKX2-6, NODAL, NOTCH1, NOTCH2, NOTCH3, NPPA, NR2F2. NRAS, NSD1, PDLIM3, PKD1L1, PKD2, PKP2, PLN, PRDM16, PRKAG2, PRKG1, PSEN1, PSEN2, PTPN11, RAF1, RASA1, RBM10, RBM20, RIT1, RYR2. SALL1, SALL4, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2,SDHA, SEMA3A, SGCD, SHOC2, SKI, SLC12A3, SLC22A5, SLC25A4, SC2A10, SLMAP, SMAD3 SMAD4, SMAD6, SMC3, SNTA1, SOS1, SOS2, SOX2, STRA6, SYNE1, SYNE2 , TAB2, TAZ, TBX1, TBX20, TBX5, TCAP, TFAP2B, TGFB2, TGFB3, TGFBR1, TLL1, tmem43, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TREX1, TRPM4, TRPM6, TTN, TTR, VCL, ZEB2, ZFPM2, ZIC3, CAVIN4 CDH2, ILK, NEBL, TRIM63 | ||
| 腦血管風險基因檢測(Cerebrovascular diseases) | Notch3, APOE, FTO | ||
| BC5OH上升相關疾病 | BTD, HLCS, MCCC1, MCCC2, AUH, HMGCL, ACAT1, HSD17B10, MMAA, MMAB, MMACHC, MMADHC, MUT, PCCA, PCCB | ||
| 小腦發育不全(Cerebellar hypoplasia) | SLC33A1 | ||
| 兒茶酚胺敏感性多型性心室頻脈(Catecholaminergic polymorphic ventricular tachycardia, CPVT) | RYR, CASQ2 | ||
| 腦部海綿狀血管畸形(Cerebral cavernous malformation (CCM) | KRIT1(CCM1), CCM2, PDCD10 | ||
| 先天性腎上腺增生(Congenital adrenal hyperplasia) | CYP21A2 | ||
| 囊狀纖維化(Cystic Fibrosis) | CFTR | ||
| 失智症和帕金森(Dementia and Parkinson) | APOE, APP, ATP13A2, ATP1A3, C9orf72, CSF1R, DCTN1, DNMT1, EIF4G1, FBXO7, GBA, GCH1, GRN, HTRA2, LRRK2, MAPT, NOTCH3, PARK7, PINK1, PLA2G6, POLG, PRKN, PRKRA, PRNP, PSEN1, PSEN2, SLC6A3, SNCA, SNCB, TAF1, TH, TREM2, TYROBP, UCHL1, VPS35 | ||
| 先天性角化不全症(Dyskeratosis Congenita) | DKC1 | ||
| 法布瑞氏症(Fabry disease) | GLA | ||
| 家族性澱粉樣多發性神經病變(Familial Amyloidotic Polyneuropathy, FAP) | TTR | ||
| 陣發性動作手足舞蹈徐動症(Familial Paroxysmal Kinesigenic Dyskinesia,PKD) | PRRT2 | ||
| 進行性肌肉骨化症(Fibrodysplasia ossificans progressive,FOP) | ACVR1 | ||
| 聽損基因(Hearing loss) | GJB2, SLC26A4, 12s rRNA, OTOF | ||
| 遺傳性血管水腫(Hereditary angioedema, HAE) | SERPING1, FXII, ANGPT1, PLG, KNG1, MYOF, HS3ST6 | ||
| 遺傳性果糖不耐受症(Hereditary Fructose Intolerance) | ALDOB | ||
| 遺傳性出血性之血管擴張症(Hereditary hemorrhagic telangiectasia,HHT) | ACVRL1/SMAD4, ENG | ||
| 前腦發育畸形基因檢測(Holoprosencephaly, HPE) | TGIF1, SIX3, SHH, ZIC2 | ||
| 再發性葡萄胎(Hydatidiform mole, recurrent) | KHDC3L | ||
| 肥厚型阻塞性心肌病變( Hypertrophic Cardiomyopathy (HCM)) | MYH7, MYBPC3, ACTC1, TPM1, TNNT2, TCAP, TTR, MYH6, RYR2, PLN, TTN, LMNA, MYH15, NEB, TNNI3, MYL2, MYL3, PRKAG2, GLN LAMP2, JPH2, ACTN2, VCL, CFLAR, OBSCN CMYA5 | ||
| 早期視網膜裂損症(Juvenile Retinoschisis) | RS1 | ||
| 白質腦病(Leukoencephalopathy) | ABAT, ABCD1, ACOX1, ADAR, ADK, AIMP1, ALDH3A2, ARSA, ASPA, AUH, B3GALNT2, CLCN2, CLN6, COL4A1, COX15, CSF1R, CYP27A1, DARS2, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FA2H, FAM126A, FKRP, FOLR1, FOXRED1, GALC, GFAP, GJC2, HEPACAM, HSPD1, HTRA1, KCNT1, L2HGDH, LMNB1, MARS2, MLC1, MLYCD, MTTP, NDUFAF5, NOTCH3, PAH, PC, PLP1, POLR3A, POLR3B, PRPS1, PSAP, PTEN, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SCP2, SDHA, SDHB, SLC16A2, SLC25A12, SOX10, STXBP1, SUMF1, TREM2, TREX1, TUBB4A, TYROBP | ||
| Long QT | KCNH2, KCNQ1, SCN5A | ||
| LOWE氏症候群(Lowe Syndrome) | OCRL | ||
| 馬凡氏症(Marfan yndrome) | FBN1, TGFBR2, FBN2, CBS, TGFBR1, SMAD3, ACTA2 | ||
| 異染性白質退化症(Metachromatic leukodystrophy) | PSAP | ||
| 代謝疾病風險基因檢測(metabolic diseases) | ALDH2, APC, MUTYH, ABCG2, ABCC8, GCK, HNF1A, HNF4A, KCNJ11, PDX1 | ||
| 原始侏儒症II型(Microcephalic osteodysplastic primordial dwarfism type II, MOPDII) | PCNT | ||
| 神經纖維瘤(Neurofibromatosis) | NF1, NF2 | ||
| 夜盲相關基因(Night Blindness associated gene) | ABCA4, ADAM9, AIPL1, CA4, CACNA1F, CEP290 ,CERKL, CNGA1, CNGA3, CNGB1 , CRB1, CRX, EYS, FSCN2 , GUCA1A, GUCA1B, GUCY2D, IMPDH1, KCNV2, KLHL7, LCA5, LRAT, MERTK, NR2E3, NRL, PDE6A, PDE6B, PITPNM3, PRCD, PROM1, PRPF3, PRPF31 , PRPF8, PRPH2, RBP3, RD3, RDH12, RDH5, RGR, RHO, RLBP1, ROM1, RP1, RP2, RPE65, RPGR, RPGRIP1, SAG, SEMA4A, SNRNP200, SPATA7, TOPORS, TULP1, USH2A, MPDZ, EMC1, IMPG2, PITPNM3 | ||
| 努南氏症(Noonan Syndrome) | PTPN11, SOS1, RAS, RIT1, SPRED1 | ||
| 成骨發育不全(玻璃娃娃) Osteogenesis imperfect | BMP1, COL1A1, COL1A2, CRTAP, FKBP10, IFITM5, P3H1, PPIB, SERPINF1, SERPINH1, SP7, SPARC, TMEM38B, WNT1 | ||
| 持續性幼兒型胰島素過度分泌低血糖症(Persistent hyperinsulinemic hypoglycemia of infancy, PHHI) | GLUD1 | ||
| 龐貝氏症(Pompe disease) | GAA | ||
| 甲狀腺素製造不足(Thyroid dyshormonogenesis) | DUOX2, DUOXA2, GLIS3, IGSF1, IYD, SLC26A4, SLC5A5, TG, THRA, THRB, TPO, TSHR | ||
| 魚腥味綜合徵/臭魚症(Trimethylaminuria) | FMO3 | ||
| 結節硬化症(Tuberous Scierosis Complex) | TSC1, TSC2 | ||
| 逢希伯-林道症候群 (Von Hippel-lindau Disease) | VHL | ||
| 瓦登伯格氏症候群(Waardenburg Syndrome) | PAX3, MITF, SNAI2, EDNRB, SOX10, EDN3 | ||
| 威爾森氏症 (Wilson’s Disease) | ATP7A, ATP7B | ||
| 性聯遺傳肌小管病變(X-linked Myotubular Myopathy) | MTM1 | ||